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SUMMARY:Dissecting regulatory variation in human genomes using RNA sequenc
 ing
DTSTART:20110111T100000
DTSTAMP:20260414T221450Z
UID:1c4ce8760294867806189efa14c854930c2e7fd4c028a9b805368faf
CATEGORIES:Conferences - Seminars
DESCRIPTION:Dr Stephen MONTGOMERY\, University of Geneva\, Switzerland\nOu
 r ability to understand and predict complex human traits is being enhanced
  by our ability to uncover the effects of genetic variation on cellular st
 ate.   Specifically\, by identifying the genetic variants which influence 
 the expression of particular genes\, it is likely we are also uncovering t
 hose variants which inform various human conditions.   Now\, with the incr
 easing availability of complete genomes we have the resolution to integrat
 e rare and common as well as small and large variants into a more complete
  model of association with the aim of pinpointing specific causal variants
 .  To approach this\, we analyzed 60 complete genomes from the 1000 Genome
 s Project with respect to gene expression assayed by next generation RNA s
 equencing (RNA-Seq).  We have assessed the association of 6.5 million comm
 on genetic variants with the expression of 22\,194 protein coding genes.  
 We have compared the relative effects of single base pair changes (SNPs) v
 ersus small structural variants (indels) on gene expression.   We have inv
 estigated genetically-determined features of alternative splicing.  We hav
 e furthermore developed novel strategies for assessing allele-specific exp
 ression and have integrated this information to further understand the imp
 act of rare variants and to uncover structural features of the transcripto
 me.  
LOCATION:AI 1153 https://plan.epfl.ch/?room==AI%201153
STATUS:CONFIRMED
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